LEMD3 Chromosome 12
LEM domain containing 3
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What This Gene Does
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
LEM domain containing
Locus Type
gene with protein product
Location
12q14.3
Ensembl
ENSG00000174106
Associated Conditions (7)
Dermatofibrosis lenticularis disseminata
Inborn genetic diseases
LEMD3-related disorder
Osteopoikilosis
Cerebral arteriovenous malformation
isolated
Melorheostosis with osteopoikilosis
Key Variants
RS1386658293
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
Health Risk
RS139507581
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Inborn genetic diseases, Dermatofibrosis lenticularis disseminata
Health Risk
RS144086377
Conflicting classifications of pathogenicity
LEMD3-related disorder, LEMD3-related disorder
Health Risk
RS144127577
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Inborn genetic diseases, LEMD3-related disorder
Health Risk
RS199824717
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199902847
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201615997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202161021
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Inborn genetic diseases, Dermatofibrosis lenticularis disseminata
Health Risk
RS202245561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373577886
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
Health Risk
RS376437712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376822761
Conflicting classifications of pathogenicity
Dermatofibrosis lenticularis disseminata, Inborn genetic diseases, Dermatofibrosis lenticularis disseminata
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136313188 | Health Risk | Pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136313227 | Health Risk | Pathogenic | — |
| RS2136313349 | Health Risk | Pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136313585 | Health Risk | Pathogenic | LEMD3-related disorder, LEMD3-related disorder |
| RS2136313631 | Health Risk | Pathogenic | — |
| RS2136335869 | Health Risk | Pathogenic | — |
| RS2136354786 | Health Risk | Pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136355335 | Health Risk | Pathogenic | Dermatofibrosis lenticularis disseminata, Osteopoikilosis, Dermatofibrosis lenticularis disseminata |
| RS2498907861 | Health Risk | Pathogenic | — |
| RS2498908689 | Health Risk | Pathogenic | — |
| RS2498913917 | Health Risk | Pathogenic | — |
| RS2498938198 | Health Risk | Pathogenic | — |
| RS2498938244 | Health Risk | Pathogenic | — |
| RS2498940721 | Health Risk | Pathogenic | — |
| RS2498940737 | Health Risk | Pathogenic | — |
| RS267607216 | Health Risk | Pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS267607217 | Health Risk | Pathogenic | Melorheostosis with osteopoikilosis, Dermatofibrosis lenticularis disseminata, isolated |
| RS749951964 | Health Risk | Pathogenic | — |
| RS765156027 | Health Risk | Pathogenic | — |
| RS1565799131 | Health Risk | Pathogenic/Likely pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136353868 | Health Risk | Pathogenic/Likely pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |
| RS2136354792 | Health Risk | Pathogenic/Likely pathogenic | Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata |